Description Turner syndrome is ...
Description
Turner syndrome is a condition that only affects female children and results from a missing or incomplete sex chromosome. Infertility and short stature are common. Some individuals have extra skin on their neck (webbed neck), heart defects, bone or kidney problems. The majority of patients with Turner syndrome have normal intelligence but some experience developmental delay, learning or behavioral problems. Most cases of Turner syndrome are not inherited and occur as the result of a random event during development.
Symptoms
Symptoms commonly include infertility and short stature. Some individuals have extra skin on their neck (webbed neck), heart defects, bone or kidney problems, developmental delay, learning or behavioral problems.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. If your doctor suspects that your daughter has Turner syndrome, he/she will order a blood test to examine your child's chromosomes.
Other Specific Tests: genetic testing
Specialists:
Internal Medicine, Pediatrics, Obstetrics and Gynecology, Family Practice, Clinical Genetics
Workup:
A history and physical exam will be performed. If your doctor suspects that your daughter has Turner syndrome, he/she will order a blood test to examine your child's chromosomes.
Other Specific Tests: genetic testing
Specialists:
Internal Medicine, Pediatrics, Obstetrics and Gynecology, Family Practice, Clinical Genetics
Treatment
Treatment most often includes the use of growth hormone and estrogen. Other treatment varies based upon the presence of associated abnormalities of the heart, kidney, bone or brain.